CDKL5, cyclin dependent kinase like 5, 6792

N. diseases: 224; N. variants: 221
Disease: Low Vision ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0042798
Disease: Low Vision
Low Vision 		0.020 Biomarker disease BEFREE Searching for biomarkers of CDKL5 disorder: early-onset visual impairment in CDKL5 mutant mice. 28369421 2017
CUI: C0042798
Disease: Low Vision
Low Vision 		0.020 Biomarker disease BEFREE While visual alterations are not classical hallmarks of Rett syndrome, an increasing body of evidence shows visual impairment in patients and in MeCP2 and CDKL5 animal models. 27001178 2016